Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2005 Apr 12;64(7):1255-7.
doi: 10.1212/01.WNL.0000156800.23776.40.

Glycine decarboxylase mutations: a distinctive phenotype of nonketotic hyperglycinemia in adults

Affiliations
Case Reports

Glycine decarboxylase mutations: a distinctive phenotype of nonketotic hyperglycinemia in adults

A Dinopoulos et al. Neurology. .

Abstract

Three unrelated adult patients with mild hyperglycinemia, infantile hypotonia, mental retardation, behavioral hyperirritability, and aggressive outbursts were screened for glycine decarboxylase (GLDC) mutations; two novel missense mutations (A389V and R739H) were found. Both mutations had a 6 to 8% of normal GLDC activities when expressed in COS7 cells.

PubMed Disclaimer

Publication types

MeSH terms

Substances

LinkOut - more resources